Comparison of Clinical Features of Arrhythmogenic Right Ventricular Cardiomyopathy in Men Versus Women

Bauce, Barbara; Frigo, Gianfranco; Marcus, Frank I.; Basso, Cristina; Rampazzo, Alessandra; Maddalena, Francesco; Corrado, Domenico; Winnicki, Mikołaj; Daliento, Luciano; Rigato, Ilaria; Steriotis, Alexandros; Mazzotti, Elisa; Thiene, Gaetano; Nava, Andrea

doi:10.1016/j.amjcard.2008.06.054

Cited by 84 publications

(62 citation statements)

References 27 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…8,9,[12][13][14]28,36 Yet previous studies have yielded conflicting evidence regarding the usefulness of RV function and dimension for risk prediction in ARVC/D. [7][8][9][10][11][12][13][14][15]37 Controversial findings by others may be related to different study methodologies, divergent imaging modalities, and heterogeneous patient cohorts. Neither occurrence nor severity of RV disease was defined homogenously throughout these studies.…”

Section: Predictive Role Of Echocardiographic Variablesmentioning

confidence: 82%

See 1 more Smart Citation

Different Prognostic Value of Functional Right Ventricular Parameters in Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia

Saguner

Vecchiati

Baldinger

et al. 2014

Circ: Cardiovascular Imaging

View full text Add to dashboard Cite

A rrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is an inherited disease characterized by a progressive fibrofatty replacement mainly involving the RV myocardium. It is associated with ventricular arrhythmias, heart failure, and sudden cardiac death (SCD). 1-6Clinical Perspective on p 239 RV dilation, reduced RV systolic function, and diffuse RV involvement have previously been studied as predictors of an adverse outcome in patients with ARVC/D but have yielded conflicting results possibly because of divergent imaging modalities, varying parameters measured, and heterogeneous patient cohorts. [7][8][9][10][11][12][13][14][15] Data about the predictive role of RV fractional area change (FAC) in ARVC/D as measured by 2-dimensional transthoracic echocardiography (2D TTE) are scarce and controversial. 9,[14][15][16][17][18][19][20] Tricuspid annulus plane systolic excursion (TAPSE) can easily be determined by M-mode TTE. It is a robust parameter for

show abstract

Section: Predictive Role Of Echocardiographic Variablesmentioning

confidence: 82%

“…[7][8][9][10][11][12][13][14][15] Data about the predictive role of RV fractional area change (FAC) in ARVC/D as measured by 2-dimensional transthoracic echocardiography (2D TTE) are scarce and controversial. 9,[14][15][16][17][18][19][20] Tricuspid annulus plane systolic excursion (TAPSE) can easily be determined by M-mode TTE.…”

Section: -6mentioning

confidence: 99%

Different Prognostic Value of Functional Right Ventricular Parameters in Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia

Saguner

Vecchiati

Baldinger

et al. 2014

Circ: Cardiovascular Imaging

View full text Add to dashboard Cite

show abstract

“…21,30,35,36 Although in the present study multiple mutations had the single most important role in predicting arrhythmic events, this factor was importantly modulated by male sex. Arrhythmic prognosis was worse in male desmosomal gene mutation carriers, and men with multiple mutations exhibited the highest cumulative risk (63%) of experiencing a malignant arrhythmic event.…”

Section: Sexmentioning

confidence: 89%

Compound and Digenic Heterozygosity Predicts Lifetime Arrhythmic Outcome and Sudden Cardiac Death in Desmosomal Gene–Related Arrhythmogenic Right Ventricular Cardiomyopathy

Rigato

Bauce

Rampazzo

et al. 2013

Circ Cardiovasc Genet

Self Cite

221

137

View full text Add to dashboard Cite

Background-Mutations in genes encoding for desmosomal proteins are the most common cause of arrhythmogenic right ventricular cardiomyopathy (ARVC). We assessed the value of genotype for prediction of lifetime major arrhythmic events and sudden cardiac death (SCD) in desmosomal gene-related ARVC. Methods and Results-The overall study population included 134 desmosomal gene mutation carriers (68 men; median age 36 years ) from 44 consecutive ARVC families undergoing comprehensive genetic screening. The probability of experiencing a first major arrhythmic event or SCD during a lifetime was determined by using date of birth as start point for the time-to-event analysis, and was stratified by sex, desmosomal genes, mutation types, and genotype complexity (single versus multiple mutations). One hundred thirteen patients (84%) carried a single desmosomal gene mutation in desmoplakin (n=44; 39%), plakophilin-2 (n=38; 34%), desmoglein-2 (n=30; 26%), and desmocollin-2 (n=1; 1%), whereas 21 patients (16%) had a complex genotype with compound heterozygosity in 7 and digenic heterozygosity in 14. Over a median observation period of 39 (22-52) years, 22 patients (16%) from 20 different families had arrhythmic events, such as SCD (n=1), aborted SCD because of ventricular fibrillation (n=6), sustained ventricular tachycardia (n=14), and appropriate defibrillator intervention (n=1). Multiple desmosomal gene mutations and male sex were independent predictors of lifetime arrhythmic events with a hazard ratio of 3.71 (95% confidence interval, 1.54-8.92; P=0.003) and 2.76 (95% confidence interval, 1.19-6.41; P=0.02), respectively. Conclusions-Compound/digenic heterozygosity was identified in 16% of ARVC-causing desmosomal gene mutation carriers and was a powerful risk factor for lifetime major arrhythmic events and SCD. These results support the use of comprehensive genetic screening of desmosomal genes for arrhythmic risk stratification in ARVC.(Circ Cardiovasc Genet. 2013;6:533-542.)

show abstract

“…These findings are in agreement with previous studies, in which no unequivocal conclusions on sex differences could be drawn. 35,36 However, these studies pointed out that although equally affected, male ARVD/C patients and/or mutation carriers are more often symptomatic than their female counterparts. Therefore, men are more likely to be the first in a family to be diagnosed and thereby become the proband.…”

Section: Application Of New Tfcmentioning

confidence: 99%

Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Diagnostic Task Force Criteria

Cox

Smagt

Noorman

et al. 2010

Circ: Arrhythmia and Electrophysiology

View full text Add to dashboard Cite

Background-Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) Diagnostic Task Force Criteria (TFC) proposed in 1994 are highly specific but lack sensitivity. A new international task force modified criteria to improve diagnostic yield. A comparison of diagnosis by 1994 TFC versus newly proposed criteria in 3 patient groups was conducted. Methods and Results-In new TFC, scoring by major and minor criteria is maintained. Structural abnormalities are quantified and TFC highly specific for ARVD/C upgraded to major. Furthermore, new criteria are added: terminal activation duration of QRS Ն55 ms, ventricular tachycardia with left bundle-branch block morphology and superior axis, and genetic criteria. Three groups were studied: (1) 105 patients with proven ARVD/C according to 1994 TFC,

show abstract

Comparison of Clinical Features of Arrhythmogenic Right Ventricular Cardiomyopathy in Men Versus Women

Cited by 84 publications

References 27 publications

Different Prognostic Value of Functional Right Ventricular Parameters in Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia

Different Prognostic Value of Functional Right Ventricular Parameters in Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia

Compound and Digenic Heterozygosity Predicts Lifetime Arrhythmic Outcome and Sudden Cardiac Death in Desmosomal Gene–Related Arrhythmogenic Right Ventricular Cardiomyopathy

Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Diagnostic Task Force Criteria

Contact Info

Product

Resources

About